Canonical Allele Identifier: CA015198

Gene: BRCA2

Linked Data

• ClinVar Variation Id: 37785
• ClinVar RCV Id: RCV000031366 ; RCV000043988 ; RCV000217504 ; RCV000586268 ; RCV002295275
• dbSNP Id: rs80358507
• ExAC: 13:32893387 T / A
• gnomAD v2: 13-32893387-T-A
• gnomAD v3: 13-32319250-T-A
• gnomAD v4: 13-32319250-T-A
• MyVariant Identifiers: chr13:g.32893387T>A (hg19) ; chr13:g.32319250T>A (hg38)
• PubMed: PMID:10923033 ; PMID:21952622

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.32319250T>A , CM000675.2:g.32319250T>A	GRCh38
NC_000013.10:g.32893387T>A , CM000675.1:g.32893387T>A	GRCh37
NC_000013.9:g.31791387T>A	NCBI36
NG_012772.3:g.8771T>A , LRG_293:g.8771T>A
NG_017006.2:g.1114A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000470094.2:c.241T>A	ENSP00000434898.2:p.Phe81Ile
ENST00000528762.2:c.241T>A	ENSP00000433168.2:p.Phe81Ile
ENST00000530893.7:c.-129T>A	ENSP00000499438.2:n.-129T>A
ENST00000665585.2:c.241T>A	ENSP00000499570.2:p.Phe81Ile
ENST00000666593.2:c.241T>A	ENSP00000499256.2:p.Phe81Ile
ENST00000700202.2:c.241T>A	ENSP00000514856.2:p.Phe81Ile
ENST00000700200.1:n.191+2723T>A
ENST00000700201.1:c.241T>A	ENSP00000514855.1:p.Phe81Ile
ENST00000380152.8:c.241T>A MANE Select	ENSP00000369497.3:p.Phe81Ile
ENST00000544455.6:c.241T>A	ENSP00000439902.1:p.Phe81Ile
ENST00000614259.2:c.241T>A	ENSP00000506251.1:p.Phe81Ile
ENST00000680887.1:c.241T>A	ENSP00000505508.1:p.Phe81Ile
ENST00000380152.7:c.241T>A	ENSP00000369497.3:p.Phe81Ile
ENST00000530893.6:n.439T>A
ENST00000544455.5:c.241T>A	ENSP00000439902.1:p.Phe81Ile
ENST00000614259.1:n.241T>A
NM_000059.3:c.241T>A , LRG_293t1:c.241T>A	NP_000050.2:p.Phe81Ile
XM_011535203.1:c.241T>A	XP_011533505.1:p.Phe81Ile
XM_011535204.1:c.241T>A	XP_011533506.1:p.Phe81Ile
XM_011535205.1:c.241T>A	XP_011533507.1:p.Phe81Ile
NM_000059.4:c.241T>A MANE Select	NP_000050.3:p.Phe81Ile